Cholestasis

Gene: MYO5B

Green List (high evidence)

Cholestasis has been reported in association with microvillus inclusion disease, but PMID: 28027573 and PMID: 27532546 also report cholestasis with normal or low γ‐glutamyltransferase activity, without diarrhoea, in a total of 13 unrelated individuals with biallelic variants in MYO5B. The youngest proband presented at 2 days of age, although in most cases the onset of symptoms was at more than one month of age.

Created: 14 Jan 2019, 8:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cholestasis; Microvillus inclusion disease with cholestasis

Publications

• PMID: 28027573

Green List (high evidence)

Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.

Created: 31 Jan 2019, 10:37 a.m.

Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: MYO5B; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given

Created: 7 Jan 2019, 4:42 p.m.

Red List (low evidence)

Comment when marking as ready: Red on the basis of the phenotype and scope of the panel.

Created: 27 Jul 2018, 10:31 a.m.

Comment on phenotypes: Microvillus inclusion disease 251850

Created: 27 Jul 2018, 10:31 a.m.

There is evidence of a gene:disease relationship, however I do not see that the phenotype of intractable diarrhoea is relevant to this panel. It is green on the GI epithelial barrier disorders panel which is more appropriate.

Created: 27 Jul 2018, 10:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microvillus inclusion disease 251850

Publications

• 18724368

Gene added from King's College Hospital NHS Foundation Trust diagnostic cholestasis gene panel. This gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.

Created: 25 Jul 2018, 4:18 p.m.

Mode of inheritance
Unknown

Phenotypes
MYO5B associated disease; Cholestasis